@article{ReuterSassLeisetal.2014, author = {Miriam S. Reuter and J{\"o}rn Oliver Sass and Thomas Leis and Julia K{\"o}hler and Johannes A. Mayr and Ren{\´e} G. Feichtinger and Manfred Rauh and Ina Schanze and Luzy B{\"a}hr and Regina Trollmann and Steffen Uebe and Arif B. Ekici and Andr{\´e} Reis}, title = {HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders}, series = {American Journal of Medical Genetics, Part A}, volume = {164}, number = {12}, publisher = {Wiley}, issn = {1552-4825}, doi = {10.1002/ajmg.a.36766}, pages = {3162 -- 3169}, year = {2014}, language = {en} }